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Archive for the ‘Gene Therapy Doctor’ Category

A Study to Evaluate the Efficacy and Safety of Factor IX … Identifier: NCT03861273 Recruitment Status : Not yet recruiting

First Posted : March 4, 2019

Last Update Posted : April 4, 2019


Information provided by (Responsible Party):


Brief Summary:

This study will evaluate the efficacy and safety of PF-06838435 (a gene therapy drug) in adult male participants with moderately severe to severe hemophilia B (participants that have a Factor IX circulating activity of 2% or less). The gene therapy is designed to introduce genetic material into cells to compensate for missing or non-functioning Factor IX. Eligible study participants will have completed a minimum 6 months of routine Factor IX prophylaxis therapy during the lead in study (C0371004). Participants will be dosed once (intravenously) and will be evaluated over the course of 6 years. The main objectives of the study are to compare the annualized bleeding rate [ABR] of the gene therapy to routine prophylaxis from the lead-in study and to evaluate the impact that it may have on participant's Factor IX circulating activity [FIX:C].

Gene Therapy

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Inclusion Criteria

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03861273


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A Study to Evaluate the Efficacy and Safety of Factor IX ...

Xconomy: SMA Moment: Will Gene Therapy Shift Treatment …


This is a big moment for people diagnosed with spinal muscular atrophy, or SMA, a rare and potentially lethal genetic disorder that destroys muscles. For decades, there was no way to change the trajectory of their disease. They now have one marketed medicine, and this month, chances are theyll have another: a gene therapy that promises a long-lasting treatment, if not an outright cure, through a one-time dose.

This weekend at the annual American Academy of Neurology meeting, patients, their families, and doctors will gain more insight about the gene therapy, Zolgensma, which is owned by drug giant Novartis (NYSE: NVS), and how it might stack up against the approved medicine nusinersen (Spinraza), owned by Biogen (NASDAQ: BIIB). They can also look forward to the latest clinical data from an SMA drug, risdiplam, from Roche, that, if successful, would be the first that a patient could take orallya big deal, because the most severe cases of SMA are in newborns and infants, and Spinraza requires chronic spinal infusions.

Its ridiculously exciting, says Jahannaz Dastgir, a pediatric neurologist at Goryeb Childrens Hospital in Morristown, NJ. Its a great time to be a doctor.

All the new information comes amid anticipation that the FDA this month will approve Zolgensma. With the agencys green light, it would be the second approved gene therapy in the US, and one of just a handful around the world.

Zolgensma will also face something other gene therapies havent: competition. Approved in late 2016, Spinraza has already proven effective and, after early hiccups, has become a big seller for the beleaguered Biogen, with $1.7 billion in sales in 2018 and $518 million in the first quarter of 2019.

Novartis has high hopes for Zolgensma, too, having paid $8.7 billion to buy its developer AveXis in 2018. Its success or failure will be a bellwether for the economics of gene therapy. (Nationwide Childrens Hospital in Columbus, OH, where the therapy was developed, will be watching closely too.)

If both Spinraza and Zolgensma are available, doctors, payers, patients, and their families will face tough medical, logistical, and economic decisions. So far, Spinraza has far more data to support it. But it has a $750,000 first-year price tag and requires a few spinal infusions a year at a $375,000 annual cost thereafter, for life. Zolgensma could cost $1 million or more (Novartis has hinted much more) for a single dose, theoretically a bargain if it saves lives and negates downstream medical and social costs that SMA patients and their families would otherwise face.

A recent survey of 30 physicians in the US and Europe by the investment bank Jefferies suggested that a majority of newly diagnosed SMA patients, as well as those currently on Spinraza, will get Zolgensma. Jefferies predicts $2.6 billion in peak sales for Zolgensma.

Its possible that the best results could come from combination therapy, but that hasnt been tested and the costs would be exorbitant.

Alex Fay, a pediatric neurologist at UCSF Benioff Childrens Hospital in San Francisco, CA, says he would be hesitant to switch patients if Spinraza is well tolerated and working. Adding more complication, says Fay, is the fast progress of the disease. Those decisions are going to have to be made pretty quickly, says Fay.

Information revealed soon could make those decisions easier. Babies diagnosed with Type 1 SMA, the most common and deadly form of the disease, often die before the age of two. Type 2 patients may never be able to walk, while Type 3 patients can walk initially before losing strength later in life. In all types, it seems that the earlier the treatment, the more benefit.

Thus far, all public Zolgensma data have been in babies with Type 1. There will be more of that at AAN. Studies presented at the meeting this weekend will also, for the first time, reveal Zolgensmas effects on more moderate forms of SMA, and in patients who havent shown symptoms yet. Those data could help determine Zolgensmas eventual reach.

More than 7,500 patients across several SMA types have now received Spinraza, some as long as six years. Biogen recently used that experience to turn up the heat on Novartis.

Last week it published results in Neurology, the AANs medical journal, from a long-term study in later-onset patients, aged 5 to 19, who were likely to develop Type 2 or Type 3 SMA. Each group showed improvements on tests of motor function; historical data suggest they should get weaker. A couple patients with Type 3 SMA even regained the ability to walk during the trial, Biogen said.

Citing the study and other data supporting Spinraza, Biogen CEO Michel Vounatsos was adamant on an April 24 conference call that the drug will remain the standard of care for SMA for years to come.

The presentations this weekend will shed more light on the potential benefits and risks of the new world of SMA treatments, but there will plenty of questions left unanswered. Here we break down four key SMA topics that will be under intense discussion.

Fast Access: SMA is a battle against time. Neurons die and dont come back. Muscles waste away and are replaced by scar tissue and fat. The muscle-wasting is particularly fast for babies with Type 1. Time to treatment is of the essence. They may never Next Page

Ben Fidler is Xconomy's Deputy Editor, Biotechnology. You can e-mail him at

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Xconomy: SMA Moment: Will Gene Therapy Shift Treatment ...

Gene therapy might be a cure for "bubble boy disease …

They were born without a working germ-fighting system, every infection a threat to their lives. Now eight babies with "bubble boy disease" have had it fixed by a gene therapy made from one of the immune system's worst enemies HIV, the virus that causes AIDS.

Astudyout Wednesday details how scientists turned this enemy virus into a savior, altering it so it couldn't cause disease and then using it to deliver a gene the boys lacked.

"This therapy has cured the patients," although it will take more time to see if it's a permanent fix, said Dr. Ewelina Mamcarz, one of the study leaders at St. Jude Children's Research Hospital in Memphis.

Omarion Jordan, who turns 1 later this month, had the therapy in December to treat severe combined immunodeficiency syndrome, or SCID.

"For a long time we didn't know what was wrong with him. He just kept getting these infections," said his mother, Kristin Simpson. Learning that he had SCID "was just heartbreaking ... I didn't know what was going to happen to him."

Omarion now has a normal immune system. "He's like a normal, healthy baby," Simpson said. "I think it's amazing."

Study results were published by the New England Journal of Medicine. The treatment was pioneered by a St. Jude doctor who recently died, Brian Sorrentino.

SCID is caused by a genetic flaw that keeps the bone marrow from making effective versions of blood cells that comprise the immune system. It affects 1 in 200,000 newborns, almost exclusively males. Without treatment, it often kills in the first year or two of life.

"A simple infection like the common cold could be fatal," Mamcarz said.

The nickname "bubble boy disease" comes from a famous case in the 1970s a Texas boy who lived for 12 years in a protective plastic bubble to isolate him from germs. A bone marrow transplant from a genetically matched sibling can cure SCID, but most people lack a suitable donor. Transplants also are medically risky the Texas boy died after one.

Doctors think gene therapy could be a solution. It involves removing some of a patient's blood cells, using the modified HIV to insert the missing gene, and returning the cells through an IV. Before getting their cells back, patients are given a drug to destroy some of their marrow so the modified cells have more room to grow.

When doctors first tried it 20 years ago, the treatment had unintended effects on other genes, and some patients later developed leukemia. The new therapy has safeguards to lower that risk.

A small study of older children suggested it was safe. The new study tried it in infants, and doctors are reporting on the first eight who were treated at St. Jude and at UCSF Benioff Children's Hospital San Francisco.

Within a few months, normal levels of healthy immune system cells developed in seven boys. The eighth needed a second dose of gene therapy but now is well, too. Six to 24 months after treatment, all eight are making all the cell types needed to fight infections, and some have successfully received vaccines to further boost their immunity to disease.

No serious or lasting side effects occurred.

Omarion is the 10th boy treated in the study, which is ongoing. It's sponsored by the American Lebanese Syrian Associated Charities, the California Institute of Regenerative Medicine, the Assisi Foundation of Memphis and the federal government.

"So far it really looks good," but patients will have to be studied to see if the results last, said Dr. Anthony Fauci, head of the National Institute of Allergy and Infectious Diseases, which helped develop the treatment. "To me, this looks promising."

Rights to it have been licensed by St. Jude to Mustang Bio. Doctors say they have no estimate on what it might cost if it does become an approved treatment.

A similar technique harnessing a modified version of HIV is also being studied as a possible cure for sickle cell anemia, CBS News chief medical correspondent Dr. Jon LaPook reports. In a clinical trial at the National Institutes of Health, nine adults with sickle cell anemia have undergone the gene therapy. So far, all are responding well.

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Gene Therapy Questions | FAQs – Dana-Farber/Boston …

Frequently Asked QuestionsWhatis gene therapy?

Some diseases are caused by errors (mutations) inspecific genes. Gene therapy delivers DNA into cells to replacemutated (bad) or missing genes or to add new, good genes.

Scientists are investigating a number of differentways to do this. Right now, gene therapy is only done through research studiescalled clinical trials. Unlike medicine, gene therapy directly addresses the underlyinggenetic problem, not just the symptoms.

Genes are in the nucleus of every living cell. A gene is an instruction manual for the body. Itgives the direction to make the proteins that make the body work.

A gene cannot be inserted directly into a cell.Instead, a carrier called a vector is genetically engineered to deliver thegene. Viruses are usually used as the vectors because they are very good atinfecting cells and inserting the gene(s) into the cells DNA. Types of viralvectors are retrovirus, adenovirus, adeno-associated virus and herpes simplexvirus.

No. The virus is specially engineered to remove the infectious piece. We only keep the part of the virus that is good at burrowinginto a cells nucleus. Once the virus delivers the gene into the cell, thevirus slips away.

It is not for all genetic diseases. It is only forsome diseases caused by a single gene mutation. Some diseases that might betreated with gene therapy are:

The goal is to cure a disease or make changes so thebody can better fight off disease. It does not correct 100% of your childs cells.Instead, every time a cell with the good gene reproduces, it carries a copyof the new healthy gene.

The vector can be injected or given by IV directlyinto a specific tissue. Or a sample of cells can be removed and exposed to thevector in a laboratory. The cells with the vector are then returned to thepatient.

1) Stem cells are collected in one of two ways: by bone marrow aspiration, or by purifying blood drawn through a central line in a process called apheresis.

2) Before the infusion, most children have chemotherapy. This makes room for the new cells by getting rid of the existing cells in the bone marrow.

3) In the laboratory, the stem cells from the blood or bone marrow are exposed to a virus or other type of vector containing the desired genes.

4) Once the stem cells take up the vector and merge the genes into cells DNA, the cells are given back to the patient in an IV infusion.

Bone marrow transplants usestem cells from another person (a donor). Gene therapy uses your childs owncells. Using your childs own cells is a benefit because there is no risk ofrejection, or graft vs. host disease, like there is with donor cells. Genetherapy is still only offered through clinical trials and at only a fewresearch hospitals and centers.

Gene therapy is still very new,and is mostly used to treat children who cannot be cured by standardtreatments. Gene therapy is not for everydisease or a good fit for every patient. Your childneeds to meet certain criteria for safety reasons. Your childs doctor willtalk to you about whether your child is a good fit for a gene therapy clinicaltrial.

Your child will have 410 daysof chemotherapy before the infusion. This is called chemotherapy conditioning.It clears out bone marrow to make room for the new stem cells. This has typicalside effects from chemotherapy, like nausea/vomiting, mouth sores and pain.

Your child has the transfusionon the Bone Marrow Transplant floor (6 West) at the Jimmy Fund Clinic. It is given one timeintravenously (through an IV), just like a blood transfusion. It takes 1530minutes. The amount of time your childwill stay in the hospital depends on many factors. Most children stay 46weeks.

Your child will have bloodtests to check for the vector in the cells, and to see how the cells are responding. Your child will come in forfollow-ups frequently. Your childs care team will talk to you about when youshould call your childs doctor. Always call with questions or concerns or ifyou notice signs of an infection.

Many research studies areunderway to test gene therapy as a safe treatment for a growing number ofdiseases. Improvements have already beenmade in safety. Early gene therapy trials showed a high risk of turning ononcogenes that cause cancer. Now, experts have retooled the vector to lower thelikelihood of turning on oncogenes.

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Gene Therapy: The Future of Vision Treatment

Leber congenital amaurosis is an inherited retinal disease that can cause blindness. This rare eye disorder can cause severe vision loss among infants, affecting two to three infants per 100,000 births. Fortunately, new medical treatment for this condition has recently been developed. In todays post, your glaucoma doctor from EyeSite of The Villages discusses how gene therapy can help treat inherited retinal problems.

Understanding Leber Congenital Amaurosis

The retina is a specialized tissue at the back of the eye that detects light and color. Leber congenital amaurosis attacks this part of the eye, causing severe visual impairment. Its considered an inherited degenerative disease, wherein both of the parents of the affected child carry a defective gene, including the RPE65 gene. Scientists have identified 14 genes with mutations that can cause this eye condition.

Patients diagnosed with Leber congenital amaurosis have reduced vision at birth. During infancy, parents may notice a lack of visual responsiveness and unusual eye movement. Typical eye exams conducted by a cataract doctor, however, may reveal normal retinas during eye exams. Electroretinography tests, however, may detect little if any activity in the retina.

Introduction to Gene Therapy

In 2009, Israeli researchers found a herd of Awassi sheep that suffered from day blindness. They began gene therapy trials for the sheep. The treatment included injecting a virus that carries a normal copy of the missing gene. The treated sheep regained their day vision, while the untreated remained visually impaired.

How Gene Therapy Can Help

After successful clinical trials, gene therapy has been approved by the Food and Drug Administration to treat Leber congenital amaurosis. This therapy doesnt restore normal eyesight; instead, it allows patients to see shapes and light. It involves injecting a healthy version of the affected gene in the retina, which helps detect light and convert it into visual signals for the brain to interpret.

Turn to the EyeSite of The Villages glaucoma doctor to help diagnose different eye conditions. We offer comprehensive eye exams to gauge your vision health. Call us today at (352) 504-4560 to schedule an appointment. We serve residents of Lady Lake and Fruitland Park, FL.

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Gene Therapy: The Future of Vision Treatment

Oncotype DX: Genomic Test to Inform Breast Cancer Treatment

The Oncotype DX test is a genomic test that analyzes the activity of a group of genes that can affect how a cancer is likely to behave and respond to treatment. The Oncotype DX is used in two ways:

Of all the breast cancer genomic tests, the Oncotype DX test hasthe strongest research behind it.

The results of the Oncotype DX test, combined with other features of the cancer, can help you make a more informed decision about whether or not to have chemotherapy to treat early-stage, hormone-receptor-positive breast cancer or radiation therapy to treat DCIS.

Genomic tests analyze a sample of a cancer tumor to see how active certain genes are. The activity level of these genes affects the behavior of the cancer, including how likely it is to grow and spread. Genomic tests are used to help make decisions about whether more treatments after surgery would be beneficial.

While their names sound similar, genomic testing and genetic testing are very different.

Genetic testing is done on a sample of your blood, saliva, or other tissue and can tell if you have an abnormal change (also called a mutation) in a gene that is linked to a higher risk of breast cancer. See the Genetic Testing pages for more information.

You may be a candidate for the Oncotype DX test if:

Most early-stage (stage I or II), estrogen-receptor-positive breast cancers that havent spread to the lymph nodes are considered to be at low risk for recurrence. After surgery, hormonal therapies such as an aromatase inhibitor or tamoxifen are prescribed to reduce the risk that the cancer will come back in the future. Whether or not chemotherapy is also necessary has been an area of uncertainty for patients and their doctors.

If youve been diagnosed with early-stage, estrogen-receptor-positive breast cancer, the Oncotype DX test can help you and your doctor make a more informed decision about whether or not you need chemotherapy. (Some research also suggests the test may help postmenopausal women with estrogen-receptor-positive breast cancer that has spread to the lymph nodes make chemotherapy decisions. Talk to your doctor if you are in this group.)

You also may be a candidate for the Oncotype DX test if:

DCIS is the most common form of non-invasive breast cancer. DCIS usually is treated by surgically removing the cancer (lumpectomy in most cases). After surgery, hormonal therapy may be recommended if the DCIS is hormone-receptor-positive. Radiation therapy may be recommended for some women. Doctors arent always sure which women will benefit from radiation therapy.

If youve been diagnosed with DCIS, the Oncotype DX test can help you and your doctor make a more informed decision about whether or not you need radiation therapy.

The Oncotype DX genomic test analyzes the activity of 21 genes that can influence how likely a cancer is to grow and respond to treatment.

Looking at these 21 genes can provide specific information on:

So, the Oncotype DX test is both a prognostic test, since it provides more information about how likely (or unlikely) the breast cancer is to come back, and a predictive test, since it predicts the likelihood of benefit from chemotherapy or radiation therapy treatment. Studies have shown that Oncotype DX is useful for both purposes.

Oncotype DX test results assign a Recurrence Score a number between 0 and 100 to the early-stage breast cancer or DCIS. You and your doctor can use the following ranges to interpret your results for early-stage invasive cancer:

The Oncotype DX DCIS score analyzes the activity of 12 genes. You and your doctor can use the following ranges to interpret your results for DCIS:

You and your doctor will consider the Recurrence Score in combination with other factors, such as the size and grade of the cancer, the number of hormone receptors the cancer cells have (many versus few), and your age. Together, you can make a decision about whether or not you should have chemotherapy or radiation therapy.

The Medicare program and several other major insurance companies have agreed to cover the Oncotype DX test. According to Genomic Health, about 90% of insured people in the U.S. are members of a plan that covers the test. If you discover that your plan does not cover the Oncotype DX test, talk to your doctor: he or she may be able to work with your insurance company to get coverage. If you have a low Recurrence Score and you and your doctor decide you do not need to have chemotherapy or radiation, your insurance company can save much more than the cost of the test.

Genomic Health also has started the Genomic Access Program to assist you with verifying insurance coverage and obtaining reimbursement. If you do not have or cannot secure insurance coverage, the Genomic Access Program still may be able to help. Various forms of financial assistance and payment plans are available for people facing financial hardships or those who are uninsured or underinsured. The Oncotype DX test costs about $4,000. For insurance- and payment-related questions, call 1-866-ONCOTYPE (1-866-662-6897) or by email at

There are other genomics tests used to analyze breast cancer tumors. To learn more, click on the links below.

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Oncotype DX: Genomic Test to Inform Breast Cancer Treatment

what is gene therapy? – Bluebird Bio

The goal of gene therapy is to address a disease at the genetic level. Many different approaches are being studied, such as:

bluebird bio is studying an approach to gene therapy that adds functional copies of a faulty gene to a patients own blood stem cells. The functional copies of the gene are delivered into the patients blood stem cells outside of the patients body. This makes the gene therapy.

The gene therapy is then given to the patient via a bone marrow transplant (BMT), also called stem cell transplant or hematopoietic stem cell transplant. This takes place in an in-patient hospital setting. As part of the transplant process, the patient receives myeloablative chemotherapy to make room in their bone marrow for the gene therapy. After the gene therapy has been infused, the patients cells will need time to multiply and produce enough new cells with the functional gene. This process is called engraftment. The patient remains in the hospital until their immune system cells have recovered and their doctor determines that it is safe for the patient to be discharged.

bluebird bio is currently investigating gene therapy in ongoing clinical trials in patients living with severe sickle cell disease, transfusion-dependent -thalassemia (also known as -thalassemia major) and cerebral adrenoleukodystrophy.

The following is a representation of organizations that offer resources and information on gene therapy, severe genetic diseases, cancer, and clinical studies:

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what is gene therapy? - Bluebird Bio

Gene therapy –

Gene therapy is a new approach to treat, cure, and ultimately prevent disease by changing the expression of a person's genes. Gene therapy is in its infancy, and primarily experimental, with most human clinical trials only in the research stages. It is being studied for many different types of cancer and some other diseases.

Gene therapy is also being studied as a way to change how a cell functions; for example, by stimulating immune system cells to attack cancer cells or by introducing resistance to human immunodeficiency virus (HIV), the virus that causes AIDS.

In general, a gene cannot be directly inserted into a person's cell. It must be delivered to the cell using a carrier known as a "vector. The most common types of vectors used in gene therapy are viruses. Scientists use viruses because they have a unique ability to enter a cell's DNA. Viruses used as vectors in gene therapy are genetically disabled; they are unable to reproduce themselves.

In other studies, vectors or liposomes (fat particles) are used to deliver the desired gene to cells in the patient's body. This form of gene therapy is called in vivo, because the gene is transferred to cells inside the patient's body.

In addition, when DNA is injected directly into a tumour, or when a liposome delivery system is used, there is a slight chance that this DNA could unintentionally be introduced into reproductive cells, producing inheritable changes. Other concerns include the possibility that transferred genes could be "overexpressed," producing so much of the missing protein as to be harmful; that the viral vector could cause inflammation or an immune reaction; and that the virus could be transmitted from the patient to other individuals or into the environment.

However, scientists use animal testing and other precautions to identify and avoid these risks before any clinical trials are conducted in humans.

Other advances that are needed include the ability to deliver genes consistently to a precise location in the patient's DNA (thus diminishing the risk of causing cancer), and ensure that transplanted genes are precisely controlled by the body's normal physiologic signals.

One such question is related to the possibility of genetically altering human eggs or sperm, the reproductive cells that pass genes on to future generations. Since reproductive cells are also called germ cells, this type of gene therapy is referred to as germ-line therapy. Another question is related to the potential for enhancing human capabilitiesfor example, improving memory and intelligenceby genetic intervention. Although both germ-line gene therapy and genetic enhancement have the potential to produce benefits, possible problems with these procedures worry many scientists.

Germ-line gene therapy would forever change the genetic make-up of an individual's descendants. Thus, the human gene pool would be permanently affected. Although these changes would presumably be for the better, an error in technology or judgment could have far-reaching consequences. In the case of genetic enhancement, there is anxiety that such manipulation could become a luxury available only to the rich and powerful. Some also fear that widespread use of this technology could lead to new definitions of "normal" that would exclude individuals who are, for example, of merely average intelligence. And, justly or not, some people associate all genetic manipulation with past abuses of the concept of "eugenics," or the study of methods of improving genetic qualities through selective breeding.

Scientists working on the Human Genome Project, which is mapping and sequencing all of the human DNA, have recognized that the information gained from this work will have profound implications for individuals, families, and society. The Ethical, Legal, and Social Implications (ELSI) Programe was established in 1990 to address these issues. The ELSI Programme is designed to identify, analyze, and address the ethical, legal, and social implications of human genetics research at the same time that the basic scientific issues are being studied. In this way, problem areas can be identified and solutions developed before the scientific information becomes part of standard health care practice.

Gene therapy -

South Bend man a ‘walking miracle’ after cancer treatment breakthrough – South Bend Tribune

Scott McIntyre calls himself a walking miracle, and he wants to tell the world about it.

I was given three to six months to survive and Im 16 months in remission, said the 53-year-old South Bend man. I would love to get the story out and let people have hope. Dont give up. You never know.

On Friday, a University of Chicago Medicine marketing team shot video and still images of Scott at Shamrock Truck Sales, the semi-truck sales and service business he co-owns near LaPaz. His face will adorn billboards, digital and print ads in Chicagoland and northwest Indiana as soon as the U.S. Food and Drug Administration approves what UCM is calling a revolutionary breakthrough in cancer treatment.

If that FDA approval comes and UCM is preparing for it to come very soon UCM will have one of the only facilities in the Midwest certified to administer chimeric antigen receptor T-cell infusion, or CAR T-cell, a newer form of immunotherapy.

Video: CAR T treatment gives hope in cancer fight

In CAR T-cell therapy, a type of white blood cell called T-cells are extracted from the patients blood and modified in the lab to recognize specific cancer cells. These supercharged T-cells are then infused back into the patient, where they search out and destroy cancer cells.

The therapy, often described as a living drug because it is customized with each patients T-cells, will be marketed as Kymriah by Swiss pharmaceutical maker Novartis.

Scott was excited to hear news Wednesday that the FDA approved the same treatment for a form of childhood leukemia, meaning, he hopes, that it won't be long before it's approved for his form of cancer, diffuse large B-cell lymphoma. The FDA called the approval "historic" because it marks the first cell-based gene therapy approved in the United States.

Scott is one of 130 patients nationally in the clinical trial for his form of lymphoma, and he was the first to receive the treatment at UCM. That happened in May 2016, when he had exhausted all other options.

Scott has been feeling good for just less than a year. Chemotherapy has taken his hair three times but he has a full head of it once again. He can play an entire round of golf with his son. An avid Notre Dame football fan and season ticket holder, he had to miss each game in 2015, but plans to attend every game this season.

In May 2013, Scott noticed a painful growth in his groin area. His family doctor, Dr. Joseph Caruso, said he had developed a swollen lymph node, which could have resulted from his body trying to fight off an infection. Caruso asked him if he had recently had an infection, and Scott recounted recently stepping on a rusty nail while the roof on his home was being replaced. Caruso prescribed an antibiotic and the swelling seemed to go away.

But four months later, while in the shower, Scott noticed another lump under his arm. He went back to Caruso, who referred him to South Bend-based Beacon Health System oncologist Dr. Thomas Reid. After some scans, Reid diagnosed Stage 3 lymphoma.

Reid administered the standard treatment, four cycles of a chemotherapy regimen known as R-CHOP, an effective but highly toxic blend of drugs causing severe side effects. The fourth cycle had to be delayed because he developed appendicitis, and it was tougher than the first three.

After all of that, the cancer started growing again just two months later.

Reid referred him to Dr. Sonali Smith, professor of medicine and director of UCMs lymphoma program. Smith and her team knew the CAR T-cell therapy was being investigated in a few select centers. Their short-term goal was to keep him alive until they could be cleared to administer the clinical trial.

In February 2015, Scott received a stem-cell transplant, which went smoothly. But three months later, the cancer again started growing. Participation in two more clinical trials and some precisely targeted radiation therapy bought a little more time, but by late 2015, his lymphoma was gaining on him.

Then, in early February 2016, the UCM team received the go-ahead for the CAR T-cell treatment and began harvesting his T cells, a process that resembles dialysis. Scott said another patient had been slated to receive the treatment first, but that patient died.

It was during an appointment in May 2016, just a week before the treatment, that Scott first grasped how close he was to dying. Smith told him the treatment could cause severe side effects, including death. Five people in the trial had died.

I said, I understand. What other options do I have? Scott recalled. She says, Oh youve already surpassed all expectations. I said, What do you mean by that? And thats when she said, after the stem cell, if it comes back, life expectancy is six months. It was a rough day. On the way home I was pretty shaken up.

A little after 9:30 a.m. on May 18, 2016, Scott, sporting a Notre Dame baseball cap, was prepared for the treatment. Carefully observing was Dr. Michael Bishop, professor of medicine and director of the Hematopoietic Cellular Therapy Program at UCM, and about a dozen members of his team. A technician brought in his modified T-cells, thawed them out and infused them into Scott intravenously.

Ten minutes later, the treatment was finished. Afterward, he and his wife Cindy spent 28 days in the hospital and then were required to live in an apartment within 10 minutes of the university hospital. They were allowed to move back home to South Bend in July, about two months after the treatment.

Its incredible, Cindy said of Scotts recovery thus far. We did not realize what we were getting into, all of the risks, until days before. She (Dr. Smith) may have mentioned it but it didnt sink in. We both realized that win, lose or draw, theyre going to learn so much, just from how he responds to it.

Cindy praised how well Drs. Reid and Smith worked together between South Bend and Chicago, and how they told them just enough to be informed without telling them so much that they panicked.

She said, theres this trial, Cindy said. This is for you. You were designed for this trial and it was designed for you. We just have to keep you going until we can give it to you.

The treatment was on a Wednesday. By Friday night, his first fever came and it wasnt a surprise. Once they enter the body, each T cell multiplies rapidly, producing thousands of offspring. Then they launch a vigorous assault. All of that warfare occurring inside the body can cause severe flu-like symptoms: fever, swelling, low blood pressure.

On Sunday his fever spiked to 104 degrees. They packed him in ice around his neck and under his arms, and managed to break the fever without sending him into intensive care.

He also experienced some neurological effects, including tremors, cognitive delays and blurred vision.

Now, more than a year later, Smith still wants to see Scott every three months, and he remains very susceptible to infections because his immunity will always be compromised not from the CAR T-cell but from all of the chemotherapy. He still has some swelling because the scar tissue from three surgeries restricts the flow of lymphotic fluids.

I feel it all the time and I have very limited range of movements but it doesnt stop me, he said.

Unless the lawn needs to be mowed, then it really bothers him, she said. Some things will never change.

She said she never imagined she had married a pioneer.

I knew I had married somebody very unique, very special, but definitely not a pioneer, she said. He was the last person you ever thought would be sick. Doesnt drink. Doesnt smoke. Never had ventured on the wild side. This wasnt supposed to happen.

So far the FDA has only approved T-cell treatments for blood cancers, such as lymphoma and leukemia, but not solid tumor cancers, such as breast and colon cancer, which kill many more people. But Bishop of UCM said that day is coming. He expects those clinical trials to begin within a year or two, and receive FDA approval within about five years.

Its very exciting, Bishop said. The technology is a little more complicated but it has the potential to treat a broad spectrum of cancers. Ive been doing this for 25 years and this is one of the most significant advances Ive seen in my career.

Meanwhile, Scott will keep telling his story of hope to everyone he can, including himself. Bishop said Scott's cancer has a 10- to 20-percent chance to recur.

Youre still thinking that the other shoe can drop, Scott said. The mantra I use when negative thoughts enter my head is, Alright Scott, are you giving up? No. Are you quitting? No. Then shut up. I dont know if that will ever go away.

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South Bend man a 'walking miracle' after cancer treatment breakthrough - South Bend Tribune

UTSA Presidential Lecture featuring Leonard Pinchuk – UTSA Today

UTSA Presidential Lecture featuring Leonard Pinchuk UC Retama Auditorium 2.02.021 UTSA Circle - San Antonio


Date/Time: 09/14/201711:00 am - 12:00 pm

Location:UC Retama Auditorium 2.02.021 UTSA CircleSan Antonio,

United States

Leonard Pinchuk Ph.D., D.Sc., (h.c.), NAE presents

Dr. Leonard Pinchuk, recipient of BioMed SAs 2017 Award for Innovation in Healthcare and Bioscience, is a serial inventor and entrepreneur with over 120 issued U.S. patents and 80 publications, and has co-founded 10 biomedical companies. His major accomplishments include the invention of the worlds first commercially successful and most widely used angioplasty balloon catheters, the helical wire stent, the modular stent-graft, a drug-eluting stent (TAXUS), two biostable implantable biomaterials (polycarbonate urethane and poly(styrene-block-isobutylene-block-styrene)), a novel glaucoma shunt (InnFocus MicroShunt) and the next generation intraocular lens material.He received a B.Sc. in Chemistry from McGill University (1976), a Ph.D. interdisciplinary in Engineering and Chemistry from the University of Miami (1984) and an honorary Doctor of Science degree from McGill University (2005). He was inducted into AIMBE in 2007 and the National Academy of Engineering in 2012 and is the recipient of the 2017 Society for Biomaterials Technology, Innovation and Development Award.Dr. Pinchuk began his career in 1983 at Cordis Corporation and left in 1987 to co-found Corvita Corporation (angioplasty catheters, vascular grafts, stents, stent-grafts) which went public on the NASDAQ in 1994, was acquired by Pfizer, Inc. in 1996, and was then sold to Boston Scientific Corporation in 1998. Dr. Pinchuk founded Innovia LLC in 2002 and continues to serve as President and CEO. Innovia has incubated eight companies working in the fields of intraocular lenses, glaucoma shunts, radiation oncology catheters, urinary catheters, gene therapy and futuristic biomaterials. One of the Innovia spin-offs, InnFocus, Inc., developed a novel medical device to treat glaucoma and was acquired by Santen Pharmaceuticals in August 2016. Dr. Pinchuk will continue to serve as InnFocus CSO for the next three years. Dr. Pinchuk also enjoys an appointment as Research Professor of Biomedical Engineering at the University of Miami (Miami, FL).

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UTSA Presidential Lecture featuring Leonard Pinchuk - UTSA Today

Why the federal government urgently needs to fund more cancer research – Los Angeles Times

Two weeks ago I lay in a hospital bed at the University of Pennsylvanias Perelman Center for Advanced Medicine and watched a clear, garlicky-smelling bag of my re-engineered white blood cells drip into my veins.

The bag contained not only my collected T cells but also magic sauce from Novartis, the drug company financing a trial of a gene therapy for my specific mutation of multiple myeloma, a blood cancer.

This living drug, a CAR-T treatment, may revitalize my immune system and erase my myeloma tumors and save my life. It could also kill me.

Last month, the Federal Drug Administration approved the first CAR-T therapy, Kymriah, to treat a leukemia that mainly affects children. My myeloma trial is an outgrowth of that promising effort. Researchers say that just one of my retooled cells can kill 100,000 cancer cells, and theyve infused millions of them.

But no one can guarantee me a happy ending. From my research, I figure I have a 1-in-9 shot at beating my wily myeloma and then for only a year or so.

Still, I consider myself lucky. Fewer than 5% of cancer patients will get into potentially beneficial clinical trials this year, and I am one of them.

Since 2003, under Democratic and Republican administrations, the National Institutes of Health budget has been cut by 15.5%, after inflation. This has left far too little NIH money for basic research and prevention, including for oncology trials. Drug companies now underwrite about 71% of the thousands of cancer trials that are conducted in the U.S. each year.

This sets back basic cancer research in several ways. Because drug companies are investing millions, if not billions, to develop proprietary, patented medicines, they dont share their discoveries as openly as the NIH does. Perhaps worse, they recklessly duplicate trials for certain common cancers, such as melanoma, to the point where around 40% fizzle out for a lack of patients to test.

By contrast, my doctors and I couldnt find a trial slot for my disease, from Seattle to Hackensack, except for the very last opening at Perelman.

Initially I was rated behind another desperately ill person and received a gut-punch email: We can not offer you a spot. In the end, I replaced a sick patient who did not meet the trials strict protocols, even though the patient needed treatment as much, or more, than I did.

Leading medical scientists say it is in our national interest to fund far more research, especially in cutting-edge immunology, which appears close to curing blood cancers. But although there is surely room in President Trumps 2018 federal budget of $4.1 trillion to fund more government cancer trials, he wants to cut the NIH's budget further, by nearly 20%.

To think we are going to stop funding biomedical studies and lose skilled scientists seems almost crazy, Dr. Stephen Grupp, a leading leukemia researcher at the Childrens Hospital of Philadelphia, told me. This is the time to invest, not back off.

The American Cancer Societys chief medical officer, Dr. Otis Brawley, noted in a telephone interview that the Department of Defense spends about as much money on bands and music as the NIH spends on breast cancer: Where are our national priorities?

If we do not invest in more research, there is a good chance that we could cede our leadership in biomedical innovation to China or other countries. Had I not gotten the last slot at Perelman, my oncologist was suggesting we explore Beijing, where Chinese researchers are reporting incredible myeloma outcomes. All I had to do to get a trial slot, apparently, was hand over $50,000 cash.

Whether the breakthroughs happen in Philadelphia, Seattle or Beijing, cures for diseases like mine are on the horizon. The sum of medical knowledge doubles every 73 days or so. Researchers, including my own doctor at Perelman, foresee a day in the early 2020s when people with blood cancers will be cured by precision medicine immunology as outpatients.

Millions of patients will follow me, and many of them will be cured. But they could be cured in the next two or three years, rather than five to seven, if Trump were aggressively expanding the NIH budget. Starting by, say, buying fewer Army bass drums and more cancer bullets.

Frank Lalli was the founding editor of New West magazine. He is the author of Your Best Health Care Now.

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Why the federal government urgently needs to fund more cancer research - Los Angeles Times

New ‘hit-and-run’ gene editing tool temporarily rewrites genetics to treat cancer and HIV – GeekWire

Nanoparticles (orange) deliver temporary gene therapy to immune cells (blue) to give them disease-fighting tools. (Fred Hutch Illustration / Kimberly Carney)

CAR T immunotherapies are all the rage in the medical community, reprogramming a patients immune system to fight cancer. For some patients, theyve produced near-miraculous recoveries, and they could be a huge breakthrough in cancer treatment.

The business community is taking note as well: Kite Pharma, a biotech company developing these therapies, announced a deal to be acquired for $11.9 billion on Monday, sending stock prices of Seattle immunotherapy developer Juno Therapeuticsskyrocketing.

But there are still giant pitfalls to using the therapies on a large scale because they are incredibly complex and expensive to produce. Researchers from Seattles Fred Hutchinson Cancer Research Center are taking the problem head-on with new hit-and-run gene editing technology.

In a study published Wednesday in the journal Nature Communications, researchers led by Dr.Matthias Stephan reported they have developed a nanoparticle delivery system that can temporarily alter cells so they are able to fight cancer and other diseases.

The best part? The treatment is a powder that just needs to be mixed with water to activate and even better, it could be an essential breakthrough in making cutting-edge medical technology affordable for patients.

Stephan told GeekWire in a previous piece on the technology that his goal is to make immunotherapy so easy to access that it replaces chemotherapy as the front-line treatment for cancer.

What I envision is like the Walgreens flu shot scenario, or you go to your doctor and you get hepatitis B shot, he said at the time. You go there every Friday, and thats it.

We realized in order to outcompete chemotherapy, we have to design something that is at least as affordable and can be manufactured at large scale by one biotech company and shipped out to local infusion centers, Stephan said. At the moment, CAR T cell therapies must be made individually for each patient in specialized labs.

Heres how the new tech works: The nanoparticles designed by Stephan and his team act like shipping containers for bundles of mRNA, the molecules that tell cells how to build disease-fighting proteins. The nanoparticles also have molecules attached to the outside to help them find the right kind of cells, like a shipping label on a package.

When the mRNA is delivered to the cell, it prompts the cell to grow disease-fighting features, like the chimeric antigen receptor in CAR T cells that help them identify and kill cancer.Researchers said the technology could potentially be used to develop treatments for HIV, diabetes and other immune-related diseases.

In the short run, the tech could help researchers discover new treatments and therapies in the lab. It could one day be used in hospitals and clinics around the world, but will first need to undergo extensive clinical trials to ensure the tech is effective and safe to use in humans.

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New 'hit-and-run' gene editing tool temporarily rewrites genetics to treat cancer and HIV - GeekWire

First gene therapy to treat cancer gets FDA approval; UM only Michigan hospital to use it – Detroit Free Press

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Dr. Gregory Yanik, clinical director of the Pediatric Blood and Marrow Transplantation Program at C.S. Mott Children's Hospital in Ann Arbor, works with Maryam Rasheed of Macomb Township. Maryam was part of a clinical trial using gene therapy to successfully treat her leukemia.(Photo: Sophie Masson/Michigan Medicine)

The U.S. Food and Drug Administrationapproved on Wednesdaythe first-ever gene therapytotreat children and young adults withleukemia.

Called Kymriah, but better known as CAR T-cell treatment, the therapy is being hailed by doctors as revolutionary. Itinvolves genetically modifyinga patient's own T-cells, which thencantarget and kill a form of acute lymphoblastic leukemiacells.

This new treatment has the potential to change the face of cancer therapy for years to come, not just in childhood acute lymphoblastic leukemia but in other cancers in which a patients own T-cells can be collected, genetically modified and redirected to kill a patients tumor," said Dr.Gregory Yanik, clinical director of the Pediatric Blood and Marrow Transplantation Program at the University of Michigan's C.S. Mott Children's Hospital. Mottwas one of a few hospitals nationally to take part inclinical trials of the treatment.

"This allows us to turn patients own cells into a powerful weapon to fight the disease a weapon that does not rely on chemotherapy but takes a whole new approach to attacking childhood leukemia, Yanik said.

The CAR T-cell treatmentoffers new hope for children like Maryam Rasheed, 10, of Macomb Township.

Maryam was diagnosed with B-cell acute lymphoblastic leukemia at age 4, when her family was seeking refuge from religious persecution in Turkey, said Maryam's mother, Asmaa Rasheed.

Maryam Rasheed (right) with her brother, Rashid, and sister Samantha. Maryam, 10 of Macomb Township, survived acute lymphoblastic leukemia.(Photo: Rasheed family photo)

"My country is Iraq," Asmaa Rasheedsaid. "It wasnt safe. We are Christian. It was so hard over there in Baghdad. We run away to Turkey.

"We take her to hospital the first timebecause ... she stopped eating, stopped walking, stopped talking. We bring her to emergency. The doctor decided to take her bone marrow to do tests. Then the results came back, and she have leukemia."

Maryam underwent her firstchemotherapy treatment in Turkey.

"Over there, it was so hard," Rasheed said. "The doctors dont speak English over there. We know English a little bit. We speak Arabic."

Maryam Rasheed of Macomb Township undergoes treatment for acute lymphoblastic leukemia. She is now in remission.(Photo: Rasheed family photo)

Rasheed stayed with her daughter for two months in the Turkish hospital. A few months later,the Rasheed family was able to immigrate to the U.S. and settled in Michigan.

But Maryam's cancer returned. She was treated at Children's Hospital of Michigan with more chemotherapy and radiation. In 2013,her younger brother, Rashid, proved to be a match for a bone marrow transplant.

Still, the cancer wouldn't relent.

The Rasheed family learned of a clinical trial for CAR T-cell therapy under way atMott. It was the family's last chance,Rasheed said.

Maryam Rasheed, 10, of Macomb Township holds up her arms joyfully. She's surrounded by her sister Samantha (left), brother, Rashid, and baby sister Annabell.(Photo: Rasheed family photo)

"There was nothing to do," her mother said."In Detroit, there was chemo, radiation, bone marrow transplant. It returned back three times. She lose her hair three times. It was so hard for her and my family."

She remembers the date Maryam started the clinical trial at Mott: Dec. 17, 2014. Maryam spent Christmas and her seventh birthday in the hospital.

"I think we waited like 100 days,I dont remember exactly, and they did a bone marrow test, and the medicine, it work!" Rasheed said.

"It was like a dream, you know, like light coming from far away when youre in the dark. Theres nothing else we could do. But the CART-cell was like a shining light from far away."

Maryam has been in remission two years, andis starting fourth grade next week at Shawnee Elementary School in Macomb Township.

"Now, shes start her life, and doing everything a little kid is doing," said Rasheed, who says she hopes the treatment helps other children, too.

So does Yanik.

"Acute lymphoblastic leukemia is the most common form of cancer in children, accounting for approximately25% of all childhood cancers," Yanik said. "This particular therapy utilizes a childs own immune system to target their leukemia."

Theclinical trials focused on the 15% to 20% ofchildren whoseB-cell acute lymphoblastic leukemia had either relapsed or who had residual leukemia cells in their bone marrow after treatment.

"Historically, such patients would have an estimated cure rate of approximately 10%," Yanik said. "The two trials were groundbreaking. In the most recent trial, 52 of 63 patients with childhood leukemia successfully entered complete remission with this therapy."

Novartis Pharmaceuticals Corp. got the FDA approval for the gene cell therapy, whichinvolves drawing blood from childrenwith B-cell acute lymphoblastic leukemia. The T-cellsin the child's blood are thenshipped to a lab where they are genetically engineered so theywillseek outa particular protein in the leukemia cells and attack. Patients are then infused with the modified blood, and the T-cells go to work to find and kill the leukemia.

The New York Times reported Wednesday that the therapy will cost $475,000 for the initial treatment, with additional treatments administered at no cost.

Although 83% of the children in the clinical trials for CAR T-cell therapy went into remission, Yaniksaid it's too early to tell howcurative treatmentswill prove in the long run. And, its use will be limited to only a few medical centers in the U.S.

"The University of Michigan is the only site in the state and within this region that is licensed to administer these cells for childhood leukemia," he said.

Offering the treatment at a large medical center like U-Mis essential, said Dr. Rajen Mody,a pediatric oncologist at Mott, because of the severity ofpotential side effects.

"It can cause serious side effects, especially within the first 21 days," said Mody, who is Mott's director of pediatric oncology. "Patients can have high fevers, bleeding complications, trouble breathing, infections. ... Thats why a hospital like the University of Michigan is the ideal place. ... Patients who undergo this treatment are usually so sick after an infusion of the CAR-T cells, that they can't be safely treated at smaller hospitals."

Dr. Rajen Mody, a pediatric oncologist at the University of Michigan's C.S. Mott Children's Hospital.(Photo: University of Michigan)

Yanik is hopeful that successful treatment with CAR T-cell therapy in children with leukemia will open the door for similar therapies targeting other cancers.

"Aseparate CAR T-cell trial targeting diffuse large-cell lymphoma was recently completed with the results in that clinical trial now under review at the FDA," he said. That trial alsoincluded adult patientsat the University of Michigan.

Mody called the gene therapy revolutionary.

"This is clearly a life-saving and potentially curative therapy," he said."Its being tested in other types of leukemia and solid tumors. Its too early to say whether its going to work as well for other cancers.... We are not there yet."

Still, he said, it's made all the difference for Maryam and her family.

"She was one of the lucky ones coming from Iraq, and with all the things she has survived. And then coming here and surviving this,... she clearly has some goodluck.

"I think she should do very well. Patients who actually survive the first six months and still have CAR T-cells detected in their systems tend todo very, very well."

Contact Kristen Jordan Shamus: 313-222-5997 or Follow her on Twitter @kristenshamus.

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First gene therapy to treat cancer gets FDA approval; UM only Michigan hospital to use it - Detroit Free Press

Man describes new FDA-approved gene therapy for leukemia that changed his life –

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KANSAS CITY, Mo. -- Lucas Novick, 27, has been in a battle with leukemia since his freshman year of college.

"I was having headaches that were so bad that they were causing vomiting pretty regularly and I couldn`t see straight well enough that I felt safe driving myself to school," Novick said.

Since 2009, Novick has endured a number of treatments including chemotherapy and a bone marrow transplant. The treatments have taken a physical and mental toll on Novick's body.

"The transplant that was supposed to save my life also nearly took it from me," Novick said. "The damage chemotherapy did to my body when I was first treated in 2009 and 2010 was such that I was walking with a cane after my 21st birthday. It did so much damage to my hip joints that they were replaced in 2011."

But after Novick's leukemia returned for a second time, he went to Children's Mercy Hospital where doctors were performing an experimental treatment.

"The approval of the CTL019 product for pediatric patients with relapsed refractory acute lymphoblastic leukemia is really exciting for us," Doctor Doug Myers, of Children's Mercy Hospital, said. "We`ve spent a lot of time working on ways to get the immune system into the fight against cancer because we think it can decrease toxicity, decrease the amount of chemotherapy and radiation that we use for these cancers."

Dr. Myers said the treatment helped Novick, a musician, back onto the stage and has held his leukemia awayfor two years.

"Those are really special rewards for us in this field that have seen so many failures of this type of therapy in the past. To see this go forward, move forward, do well enough for a pharmaceutical company will pick this up and take it the rest of the way, that`s a really special time for us," Dr. Myers said.

While doctors believe it's too early to call the new treatment a cure, many agree this is the first step to a new generation of cancer treatment.

"I know at the end of the day that this is the future of medicine," Novick said.

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Man describes new FDA-approved gene therapy for leukemia that changed his life -

Gilead is buying Kite Pharma, a cancer-fighting Santa Monica biotech firm, for $11.9 billion – Los Angeles Times

Santa Monica biotech company Kite Pharma Inc. is being acquired by industry giant Gilead Sciences Inc. in an $11.9-billion deal that demonstrates the promise of using a persons own immune system to fight cancer.

Foster City-based Gilead said Monday that it would maintain and even expand Kite Pharmas Los Angeles area operations, which include a 100,000-square-foot manufacturing facility in El Segundo.

Dr. Arie Belldegrun, Kite Pharmas founder and chief executive, will help during the merger transition, a Gilead spokeswoman said, but she offered no details on leadership plans beyond that.

The purchase of Kite, which is on the verge of gaining approval for an innovative treatment, expands the cancer-fighting portfolio of Gilead.

The acquisition of Kite establishes Gilead as a leader in cellular therapy and provides a foundation from which to drive continued innovation for people with advanced cancers, Gilead Chief Executive John F. Milligan said in a statement.

Kite Pharma has a cell therapy treatment for non-Hodgkins lymphoma under review by the Food and Drug Administration that uses a patients immune cells to fight cancerous cells. Swiss drugmaker Novartis Corp. also is developing a similar cell therapy treatment for a rare form of leukemia, which is poised to become the first gene therapy to receive FDA approval.

Cell therapy, like many cancer treatments, is expected to be expensive. The costs to patients and providers could cause problems for Gilead, which has come under fire for the high price of its drugs.

Kevin Young, Gileads chief operating officer, would not say Monday what the treatment would cost. But he told analysts on a conference call that I certainly think this innovation will support very healthy reimbursement.

Gilead is to pay $180 in cash for each share of Kite Pharma, a 29% premium over the Friday closing price. Kite Pharma stock leaped 28% to $178.05 on Monday. Gilead shares rose about 1% to $74.69.

Since the start of the year, Kite Pharmas stock price has nearly quadrupled. The shares got a significant boost after a study of the companys gene therapy reported positive results.

The boards of both companies have approved the deal, and its expected to close by the end of the year.

Gilead has developed top-selling treatments for HIV and the liver-destroying hepatitis C virus, but leaders of the biotechnology company told analysts Monday that its push into oncology has been largely nascent so far.

Kite Pharmas research and development, as well as commercialization operations, are to remain in Santa Monica. Manufacturing of Kite Pharmas treatment is to continue at the facility in El Segundo. Kite Pharma has about 600 employees at the two facilities combined, company spokeswoman Christine Cassiano said.

Gilead was impressed with Kite Pharmas team and plans to keep investing in its operations, said Gilead spokeswoman Amy Flood.

The transaction is not about financial synergies or cost savings, she said. This is a growth area, and we anticipate we will increase the number of employees at Kite.

Analysts said it made sense for Gilead to keep and even expand Kite Pharmas Los Angeles-area operations.

That manufacturing in L.A., that marketing team, I think is really, really critical in the process, especially when theyre about to launch in this area, said Tony Butler, an analyst at Guggenheim Securities.

Its important that they keep that together, he said.

Biren Amin, an equity analyst at Jefferies, said Gilead was unlikely to make a change to Kite Pharmas operations with FDA approval of its treatment right around the corner.

If one even thought about transferring it out of El Segundo, I think it would be next to impossible because youd have to have that site up and running for product launch later this year, Amin said.

Kite Pharma was founded in 2009 by Belldegrun, an Israeli-born cancer doctor with decades of experience in immunotherapy. It went public in 2014.

Its cancer treatment, called CAR T, involves reprogramming a patient's disease-fighting T-cells to seek and destroy only abnormal, cancerous lymph cells. Healthy cells are not harmed.

The process involves drawing blood from a patient, refrigerating it and flying it to Kites facilities, where the cells are modified, frozen and then flown back to doctors who reinject them into patients.

In a 2015 interview with the Los Angeles Times, Belldegrun likened the cancer-fighting treatment to the navigation system in an automobile.

"The GPS will lead you to the cancer cell, and not the normal cell, and selectively kill only the cancer cell," Belldegrun said.

In February, Kite Pharma reported that a major study of the gene therapy process found that more than a third of very sick lymphoma patients showed no signs of the disease six months after a single treatment. And 82% of patients had their cancer shrink at least by half at some point after the treatment, the study found.

CAR T has the potential to become one of the most powerful anti-cancer agents for hematologic cancers, Belldegrun said in a statement Monday. With Gileads expertise and support, we hope to fulfill that potential by rapidly accelerating our robust pipeline and next-generation research and manufacturing technologies.

Gilead was criticized two years ago for high prices for its hepatitis C drugs, including one that began at $1,000 per pill. The drugs were developed by biotech firm Pharmasset Inc., which Gilead acquired in 2011.

A bipartisan Senate Finance Committee report in 2015 said that Gilead put profits before patients in pricing the drug. Also, AIDS activists have complained about the prices of Gileads HIV medications.

The CAR T treatment could be expensive as well because of the complexities of the therapy. Novartis treatment very likely will hit the market first so Gilead will have that price to work from, said Alan Carr, an analyst at Needham & Co.

There are a lot of oncology drugs right now that are expensive. Theres a lot of controversy around that, he said. Im not sure that Gilead is particularly susceptible to that.

The Associated Press was used in compiling this report.

Twitter: @JimPuzzanghera


3:15 p.m.: This article was updated with information about Kite Pharma founder Dr. Arie Belldegrun.

1:25 p.m.: This article was updated with the closing stock prices for Kite Pharma and Gilead Sciences.

1:05 p.m.: This article was updated with analyst comment and additional details about drug pricing.

8:30 a.m.: This article was updated with details about Kite Pharmas workforce and current stock prices.

7 a.m.: This article was updated with additional detail and the opening stock prices of Kite Pharma and Gilead.

6:45 a.m.: This article was updated throughout with staff reporting.

This article was originally published at 5:25 a.m.

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Gilead is buying Kite Pharma, a cancer-fighting Santa Monica biotech firm, for $11.9 billion - Los Angeles Times

Stanford Center Hopes to Take Stem Cell and Gene Therapies to a New Level – Sickle Cell Anemia News

The new Stanford Center for Definitive and Curative Medicine will fosterthe development ofstem cell and gene therapies for genetic diseases, including sickle cell anemia.

More than280 million people around the world have diseases with genetic causes, experts estimate. While research has identified the underlying causes of several, scientists have developed few therapies that can address the causes or cure the diseases.

Treatments have been developed thatsignificantly improve patients health, however. They include public health initiatives, targeted therapies and surgery.

Scientists believe stem cell and gene therapy can cure some genetic diseases. They would likely do this either by rewiring cells to fight a disease more efficiently or by correcting a genetic errorin a patients DNA.

Stanford not only does excellent research in disease mechanisms, cell and stem cell biology, but also promotes collaboration between its medical schools and hospitals.

The initiative is a joint venture of theStanford University School of Medicine,Stanford Health CareandStanford Childrens Health.

Dean Predicts Center Will Be Major Force in the Precision-health Revolution

The Center for Definitive and Curative Medicine is going to be a major force in theprecision-health revolution, Dr. Lloyd Minor, dean of the School of Medicine, said in a press release. Our hope is that stem cell and gene-based therapeutics will enable Stanford Medicine to not just manage illness but cure it decisively and keep people healthy over a lifetime.

We are entering a new era in medicine, one in which we will put healthy genes into stem cells and transplant them into patients,said Christopher Dawes, the president and CEO of Stanford Childrens Health. And with the Stanford Center for Definitive and Curative Medicine, we will be able to bring these therapies to patients more quickly than ever before.

The work of the center is not being done anywhere else in the country only at Stanford, said David Entwistle, president and CEO of Stanford Health Care. We have a pipeline of clinical translational therapies that the center is now driving forward, enabling us to translate basic science discoveries into state-of-the-art therapies for diseases which up until now have been considered incurable.

Dr. Maria Grazia Roncarolo will direct the center,which will be in the Department of Pediatrics.The renowned medical doctor and scientist is the George D. Smith Professor of Stem Cell and Regenerative Medicine.

It is a privilege to lead the center and to leverage my previous experience to build Stanfords preeminence in stem cell and gene therapies, said Roncarolo, who is also chief of pediatric stem cell transplantation and regenerative medicine, co-director of theBass Center for Childhood Cancer and Blood Diseases,and co-director of theStanford Institute for Stem Cell Biology and Regenerative Medicine.

Main Mission Will Be to Turn Scientific Discoveries Into Treatments

Stanford Medicines unique environment brings together scientific discovery, translational medicine and clinical treatment, Roncarolo added. We will accelerate Stanfords fundamental discoveries toward novel stem cell and gene therapies to transform the field and to bring cures to hundreds of diseases affecting millions of children worldwide.

The centers main mission will be to turn scientific discoveries into treatments. A world-classinterdisciplinary team of scientists should help it deliver on that promise.

Leaders of the team will include Dr. Matthew Porteus, an associate professor of pediatrics, and Dr. Anthony Oro, the Eugene and Gloria Bauer Professor of dermatology. Dr. Sandeep Soni will direct the centers stem cell clinical trial office.

The center will provide novel therapies that can prevent irreversible damage in children, and allow them to live normal, healthy lives, said Dr. Mary Leonard, chair of pediatrics at Stanford Childrens Health. The stem cell and gene therapy efforts within the center are aligned with the strategic vision of the Department of Pediatrics and Stanfordsprecision-healthvision, where we go beyond simply providing treatment for children to instead cure them definitively for their entire lives.

A unique feature of the center will be a close association with the Stanford Laboratory for Cell and Gene Medicine, which is working on new cell and gene therapies.

The lab has already developed genetically corrected bone marrow cells as a treatment for sickle cell anemia. Other genetically modified cells it has created include skin grafts for children with the genetic disease epidermolysis bullosa and lymphocytes for children with leukemia.

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Stanford Center Hopes to Take Stem Cell and Gene Therapies to a New Level - Sickle Cell Anemia News

Baltimore 5K Aims to Raise Awareness about Sickle Cell Disease – Afro American

Charm City wont wait until September to put a spotlight on sickle cell disease.

On Aug. 26 hundreds are expected to join the Sickle Cell Disease Association of America (SCDAA) in Baltimore to bring attention to the disease, educate the public, and raise money for research.

This is an awareness event, said Sonja L. Banks, president and chief operating officer of the SCDAA. We want people to understand that sickle cell still exist and we have to raise national awareness.

Banks said that over 80 percent of all the dollars raised goes back into the community based organizations that really serve patients. Were raising money so they can provide those services and bolster research.

Participants can register for the 4th Annual Walk with the Stars 5K beforehand on the SCDAA website, or register on-site from 8-9:30 a.m. at Canton Waterfront Park before the 10 a.m. kickoff.

The walk is one of many sickle cell awareness events taking place from June to Dec. 31, 2017 as the SCDAAs One Community- One Cause campaign sweeps across the country. The disease affects approximately 100,000 Americans- almost all of whom are Black.

Banks said African-American churches, schools, and community organizations need to make sickle cell disease part of our agenda. We have diabetes, heart disease, AIDs, and cancer as part of our agenda. We need to step it up and add sickle cell disease.

According to the Centers for Disease Control, the term sickle cell disease (SCD) covers a group of inherited red blood cell disorders. SCD occurs when red blood cells take on a sickle or C-shaped form instead of a normal circle shape.

Red blood cells deliver oxygen throughout the body via tiny blood vessels, but this job gets complicated when the sickle cells become hard and sticky, die prematurely, and clog blood vessel entrances. This can cause pain and other serious problems such as infection, acute chest syndrome and stroke.

One out of every 13 African Americans born has the sickle cell trait (SCT) but no SCD symptoms. However, when two parents have the sickle cell trait there is a 25 percent chance that their child will be born with SCD, and a 50 percent chance that someone will pass along the trait. One out of every 365 Black births lead to an SCD diagnosis.

Dr. Sophie Miriam Lanzkron, director of the Sickle Cell Center for Adults at The Johns Hopkins Hospital in Baltimore told the AFRO, The most commonly used therapy is hydroxyurea. It doesnt bring crisis frequencies to zero, but it cuts it in half for people with the most common form of sickle cell disease.

Until last month, hydroxyurea was the only drug approved to treat the disease. Lanzkron said the latest therapy, Endari, is shown to decrease painful episodes by 25 percent. It is not available to the public yet, but could possibly be used along with hydroxyurea in the future.

Lanzkron also said that 98 percent of her patients are African American. Many of them receive chronic transfusion therapy, a monthly blood transfusion that replenishes blood cells and decreases the occurrence of painful crisis. This type of therapy highlights the importance of having blood from the community of the person who needs it.

Other treatments include bone marrow transplants and gene therapy, but both are typically out of reach for patients for a number of reasons.

We used to do bone marrow transplants only with donors who were an exact match but we do half- matches now. A parent or a child can be a donor, said Lanzkron. Still, between the inability to complete preparative regimens, rejection of transplants, the three-month recovery period, and money, bone marrow transplants are rarely an option- especially for adults. In the last decade weve probably had about 50 transplants at Johns Hopkins. That number doesnt include children.

Because pain is the most common symptom of SCD, the disease has presented a unique problem to lawmakers trying to regulate opioid abuse. Lanzkron said pain from SCD can present as early as four to six months, and eventually becomes an everyday occurrence for as many as 60 percent of adults.

These episodes of excruciating pain have been described as worse than child labor. All we can do is give opioids. The new restrictions on the amount and use of opioids thankfully said sickle cell is an exclusion to these new rules.

Lanzkron said, In this day in age everyone should know their trait status, something that Michael L. Matthews, Executive Director of the Childrens Sickle Cell Foundation, urges as well.

Find out if you are a carrier or not- before you decide to have a family, said Matthews, whose own son was diagnosed with SCD. You dont want the first time you hear the term sickle cell to be when the doctor is telling you that your beautiful newborn baby has the disease.

Banks said that information about sickle cell trait status is held by the public health department and some states are not required to tell you if you have the trait- only if you have the disease.

The SCDAA will hold their 45th Annual Convention from Oct. 25- 28 in Atlanta. They will also be raising awareness through social media during Sickle Cell Awareness Month in September with several Twitter campaigns focused on advocacy, awareness, access to treatment, and finding a universal cure.

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Baltimore 5K Aims to Raise Awareness about Sickle Cell Disease - Afro American

Doctor on new cancer treatment: ‘genetically engineered, tumor-killing factory’ – The Business Journal

A high-powerered magnification of chronic lymphocytic leukemia cells (stained in blue). A new treatment may offer better outcomes for patients who suffer from another kind of leukemia. Photo by Mary Ann Thompson

published on August 22, 2017 - 11:57 AMWritten by Donald A. Promnitz

Valley oncologists and groups devoted to fighting cancer are optimistic about a new leukemia treatment that was recently recommended for approval by the US Food and Drug Administration.

CTL019, a CAR T-cell therapy from the pharmaceutical company Novartis, was recommended unanimously last month, and doctors in the Central Valley have taken notice. One person to welcome the therapy is Saint Agnes Cancer Center oncologist Dr. Ravi Rao who stated that it was a profound development comparable to going to the moon and coming back.

I think its an exceptionally good idea. This is something thats been talked about for many, many decadeseven in the 1960s, 70s scientists were trying to figure out how to get your immune system to wake up and attack the cancer, Rao said. And so finally, the fact that its happened, to me, is like science fiction.

I think its groundbreaking for sure, said Valley Childrens Hospital oncologist and hematologist Dr. Vinod Balasa. If it is approved of by the FDA, it would be the first gene therapy in the United States.

CAR T-cell therapy involves the removal of a patients T cells (an immune cell) and introducing chimeric antigen receptors or CARs to the cell that will cause them to attack their cancer. These modified cells are then reintroduced to the patient. CARs are receptors that have been engineered to graft onto the T cells.

When the CAR T cell is put back in to the patient, it makes the T cells bind to the tumor cells and this in turn activates the T-cell to kill the tumor cell as well as force the T-cell to divide, said Lee Greenberger, the Leukemia & Lymphoma Societys New York-based chief scientific officer. So in essence, a genetically engineered, tumor-killing factory has been created in the patient.

The concept of introducing cells to fight blood cancer dates back to the early 1950s and in the 60s and 70s, researchers conceived the idea of introducing immune cells from donors to kill tumor cells in patients. In the 80s, the receptor was discovered and the first CAR was made.

In the 90s and 2000s, the CAR T cell was further researched and optimized. Dr. Carl H. June pioneered the immunotherapy at the University of Pennsylvania.

It doesnt just come out of the blue, Greenberger said. Theres a lot of manipulation to find out what works.

Over the last two decades, the Leukemia & Lymphoma Society has spent $40 million on CAR T-cell research. This includes $20 million to the University of Pennsylvania.

Currently, CAR T-cell therapy is approved for only one type of cancer B-cell acute lymphoblastic leukemia (ALL). Leukemia is the most common form of cancer in children, with ALL being the most prevalent form. The therapy is intended for use as a last-ditch effort to kill the cancer when all other treatments have failed.

Right now, its approved for just one subtype of leukemia, but the technology is scalable in that it can be scaled to other kinds of cancers, Dr. Rao said. So I think time will tell us how far this will go.

Of 63 patients treated with CAR T-cell therapy in a 2015-16 trial, 82.5 percent went into remission. It is also being tested for treating chronic lymphocytic leukemia and non-Hodgkin lymphoma.

Getting the treatment into the Valley, however, will present its own challenges. While effective against leukemia, the treatment includes a number of adverse side effects, including cytokine-release syndrome (or CRS). CRS occurs when cytokines chemical messengers that stimulate and direct immune response are rapidly released into the bloodstream. High fevers and dangerous falls in blood pressure are the common result.

It really requires a lot of supervision from a highly specialized team at this time, so having this treatment in the Valley is years away, said Bethanie Mills, Leukemia & Lymphoma Societys Central California senior manager of patient access. However, that doesnt mean that our Valley patients would not have access to it.

In order to receive the treatment, a Valley patient would have to be taken to a cancer specialty hospital, where staff would be better equipped to administer the therapy and care for them as it takes effect.

Despite this, Dr. Rao said that he hopes that he will himself be able to use this treatment on his patients in time.

I dont really think we need more staff I think we just need staff to be trained. We already have good cardiologists, good kidney specialists we just need them to be on board, Dr. Rao said. Its a really new branch of medicine. Theres no way people who have been trained in cardiology or infectious diseases they have never seen the kinds of side effects and complications that happen with this. Neither have I for that matter.

Dr. Balasa expressed his own optimism that Valley Childrens Hospital would be able to administer the treatment within a few years.

We already do manage those kinds of problems with other kinds of treatments, Dr. Balasa said, so I feel that being able to treat children with CAR T-cell therapy in the future is more than likely a reality.

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Doctor on new cancer treatment: 'genetically engineered, tumor-killing factory' - The Business Journal

New 3D-drug screening aims to ease economic burden of rare muscle diseases – Medical Xpress

Rare muscular diseases cause the gradual decay of the body but new drug screening could lead to better treatments. Credit: 'Isolated Myofiber' by Doctor William Roman, Instituto de Medicina Molecular

Rare muscle diseases have a devastating impact on the affected individual and their families, but 3-D-drug screening could lead to better medicines being developed which would also relieve the huge economic toll of their treatment.

Therapy for rare skeletal muscle diseases which cause a gradual decay of the human body and often end in death are scant or non-existent, and in spite of their rarity, these diseases pose a huge socio-economic burden.

'These are traumatic disorders,' said Dr William Roman, a cell biologist at the Instituto de Medicina Molecular in Lisbon, Portugal. 'You go from losing the ability to walk, to losing the ability to eat, to losing the ability to breathe.'

Treatments also require significant resources in terms of carers, expensive equipment and costly medicine, while each patient, and sometimes their family members who become carers, leave the workforce.

Dr Roman says that for many rare skeletal muscle diseases there are no cures and where therapies are available, they offer limited positive outcomes. Part of the reason for this is the lack of a way to find promising drugs.

Dr Roman is a post-doctoral researcher working on MUSCLEGUY, a project funded from the EU's European Research Council (ERC), which aims to develop reliable and effective laboratory models for testing high-potential drugs for rare muscle disorders. He plans to use a 3-D-system to reveal new disease pathways, which could lead to better treatments being found, much faster than existing methods.

'There are more or less 30 different types of muscle disorders, and their rarity stems from the fact that they arise from genetic mutation,' he said. 'It's kind of a unique case with every single person, because you have a disease mutation that nobody else has.'

This means that within each category of these muscle diseases there may be many types of different mutations. Dr Roman says that because of this unique situation hardly any new drugs pass regulatory approval and that's a major deterrent for big pharmaceutical companies to develop drugs in the first place.

'Because of the plurality of the diseases, you rarely have the right (laboratory) models to test the drugs,' he said.

The MUSCLEGUY team is currently focusing their method to find potential treatments for centralnuclear myopathy, but they hope their work could extend out to many similar disorders.

'The idea is that we would use our technology for the initial stages of drug discovery starting with thousands of compounds and work down to the promising ones,' said Dr Roman.

As well as the laboratory side, the business and commercial aspect is key to the project. Dr Roman added that their approach might provide a 'better assessment of promising drugs' and avoid discarding potentially useful drugs too early in drug development, which current testing models sometimes do.

'We hope that over time if we can get this to be successful that big pharma becomes reinterested in rare diseases,' said Dr Roman.

Gene therapy

Meanwhile, another EU-funded project known as MYOCURE is focusing directly on possible treatments using gene therapy for two rare diseases: myotubular myopathy (MTM) and glycogen storage disorder type II (GSD II), also known as Pompe's Disease.

MTM is a devastating disease where the diaphragm stops working, leading to early death it has no cure or treatment. In GSD II, the body is unable to break down the complex sugar glycogen into glucose and this can accumulate in cells particularly muscle cells - which manifests as muscle-wasting. Enzyme replacement therapy (ERT) offers some alleviation of the symptoms for this disease, but it's very expensive and does not constitute a permanent cure.

Professor Marinee Chuah, project coordinator of MYOCURE, who is at the Free University of Brussels (VUB), Belgium, said: 'The annual costs for treating GSD II patients with ERT amounts to EUR 0.4 0.7 million per year, per patient, corresponding to an estimated total cost in the EU of EUR 4 7 billion.'

But Prof. Chuah believes that MYOCURE could directly bring down healthcare costs related to ERT, and therefore the knock-on socio-economic burden, and even has hopes their research could lead to a 'one-time treatment'.

Dr Federico Mingozzi, who heads up one of MYOCURE's partner teams at the Pierre and Marie Curie University in Paris, France, says their plan is based on replacing the genes that don't work.

'The rationale is that there are a number of neuromuscular diseases with high medical need which could be addressed by gene therapy, but the problem is that the treatment itself has several limitations in targeting certain tissues,' he explained.

MYOCURE's approach differs from conventional gene therapy in that it aims to be more efficient at targeting specific body tissues where it is needed. For example, MTM gene therapy needs to target the muscle cells of the diaphragm.

To transport desired genes into the cells, gene therapy uses delivery vehicles or 'vectors' derived from viruses and MYOCURE aims to optimise this approach using different methods. For example, one strategy being tested is to shuffle the genetic sequences of various viruses to look for the best and most specific vectors.

If successful, Prof. Chuah says that MYOCURE will help some 20 000 patients currently living with MTM or GSD II within the European Union. But crucially, the team hopes that the findings from the project will extend out to many other neuromuscular diseases.

Explore further: What makes cancer gene therapy so groundbreaking?

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New 3D-drug screening aims to ease economic burden of rare muscle diseases - Medical Xpress

Potential therapy for eye condition – WTAJ

Imagine only being able to see the things in front of you in soft focus, and just in black and white. For people with the genetic eye condition achromatopsia those are just some of the side effects. But, researchers are testing a new treatment designed to cure the condition by fixing the gene responsible.

Each time Tara Cataldo prepares to leave her house, she has to make sure her face is completely shielded from the sun.

"I need to have very dark, very tinted sunglasses to feel comfortable outside and to see really well." Tara said.

Tara has achromatopsia, a genetic condition that makes her eyes incredibly sensitive to light. She is also very nearsighted; even while wearing glasses or contacts, she can only see clearly at a very short distance.

"I cannot drive a car so I rely on public transportation and my bike to get around." she explained.

Christine Kay, MD, a surgical ophthalmologist at the University of Florida said, "There are currently no approved and no effective treatments for achromatopsia."

Surgical ophthalmologist Christine Kay is working to change that. She is one of a handful of experts testing a gene therapy

"For achromatopsia the cells we have to target are cone cells responsible for decreased vision and color vision and those are cells at the very bottom layer of the retina." Dr. Kay explained.

Using a tiny cannula, surgeons deliver a normal copy of one of two mutated genes; the CNGA3 or CNGB3 gene, directly into the eye restoring vision.

Tara's myopia is so severe that her risk of retinal detachment from any retinal surgery is high, which rules her out for the current trial. In the meantime, Tara says she's learned to adapt to achromatopsia and live without limitations.

"And I hope all young achromats learn the same thing," Cataldo said.

Doctor Kay says if the gene could eventually be delivered to the surface of the retina; additional patients, like Tara, could be treated. The biotech company that developed the therapies and several U.S. universities have successfully tested this therapy in dogs and sheep.

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Potential therapy for eye condition - WTAJ

DHK – Representative Chris Walsh, 66, non-Hodgkin lymphoma (a white blood cell cancer), Framingham, with Dr … –

Christopher Walsh can still remember the day he found a suspicious lump on his groin. He immediately went to the doctor to have the lump biopsied, and results confirmed that Chris had non-Hodgkin lymphoma. He was diagnosed in June 2015, and immediately decided to go to Dana-Farber because he wanted the best to take care of it. As the cancer began to get a bit more complicated, Dr. Davids started Chris on a clinical trial involving chemotherapy a targeted gene therapy. That treatment has not worked to satisfaction, so Chris is now launching into a newer form of treatment: immunotherapy.

He has been married for almost 33 years and has 2 adult children. He is a state legislator representing the 6th Middlesex district in Framingham. Prior to that, he served as an architect for 30 years.Chris says that one of the things that has been incredible is the community support he has experienced. He had a few reservations about publicly coming out with this cancer, but given his role in the community, he did so and he has found that people appreciate the process and struggles he has endured. He has ultimate confidence in Dana-Farbers continued fight for a cure.

After obtaining an A.B. in chemistry at Harvard College, Dr. Davids completed his M.D. at Yale University School of Medicine. He served as an intern, resident, and assistant chief resident in internal medicine at New York-Presbyterian Weill Cornell Medical Center and Memorial Sloan-Kettering Cancer Center in New York City. He then completed his fellowship in hematology and oncology in Dana-Farber/Partners CancerCare, and a Masters in Medical Science (MMSc) at Harvard Medical School.

He is an attending physician in the Lymphoma Program of the Division of Hematologic Malignancies at Dana-Farber, an Assistant Professor of Medicine at Harvard Medical School, and is the Associate Director of the Dana-Farber CLL Center.

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DHK - Representative Chris Walsh, 66, non-Hodgkin lymphoma (a white blood cell cancer), Framingham, with Dr ... -

Life Lessons: Next generation testing – WFMZ Allentown

VIDEO Life Lessons: Next generation...

When Audrey Lapidus 10-month old son, Calvin, didnt reach normal milestones like rolling over or crawling, she knew something was wrong.

He was certainly different from our first child, said Lapidus, of Los Angeles. He had a lot of gastrointestinal issues and we were taking him to the doctor quite a bit.

Four specialists saw Calvin and batteries of tests proved inconclusive. Still, Lapidus persisted.

I was pushing for even more testing, and our geneticist at UCLA said, If you can wait one more month, were going to be launching a brand new test called exome sequencing, she said. We were lucky to be in the right place at the right time and get the information we did.

In 2012, Calvin Lapidus became the first patient to undergo exome sequencing at UCLA. He was subsequently diagnosed with a rare genetic condition known as Pitt-Hopkins Syndrome, which is most commonly characterized by developmental delays, possible breathing problems, seizures and gastrointestinal problems.

Though there is no cure for Pitt-Hopkins, finally having a diagnosis allowed Calvin to begin therapy.

The diagnosis gave us a point to move forward from, rather than just existing in that scary no-mans land where we knew nothing, Lapidus said.

Unfortunately, there are a lot of people living in that no-mans land, desperate for any type of answers to their medical conditions, said Dr. Stanley Nelson, professor of human genetics and pathology and laboratory medicine at the David Geffen School of Medicine at UCLA. Many families suffer for years without so much as a name for their condition.

What exome sequencing allows doctors to do is to analyze more than 20,000 genes at once, with one simple blood test.

In the past, genetic testing was done one gene at a time, which is time-consuming and expensive.

Rather than testing one sequential gene after another, exome sequencing saves time, money and effort, said Dr. Julian Martinez-Agosto, a pediatrician and researcher at the Resnick Neuropsychiatric Hospital at UCLA.

The exome consists of all the genomes exons, which are the coding portion of genes. Clinical exome sequencing is a test for identifying disease-causing DNA variants within the 1 percent of the genome which codes for proteins, the exons, or flanks the regions which code for proteins, called splice junctions.

To date, mutations in the protein-coding parts of genes accounts for nearly 85 percent of all mutations known to cause genetic diseases, so surveying just this portion of the genome is an efficient and powerful diagnostic tool. Exome sequencing can help detect rare disorders like spinocerebellar ataxia, which progressively diminishes a persons movements, and suggest the likelihood of more common conditions like autism spectrum disorder and epilepsy.

More than 4,000 adults and children have undergone exome testing at UCLA since 2012. Of difficult to solve cases, more than 30 percent are solved through this process, which is a dramatic improvement over prior technologies. Thus, Nelson and his team support wider use of genome-sequencing techniques and better insurance coverage, which would further benefit patients and resolve diagnostically difficult cases at much younger ages.

Since her sons diagnosis, Lapidus helped found the Pitt-Hopkins Syndrome Research Foundation. Having Calvins diagnosis gave us a roadmap of where to start, where to go and whats realistic as far as therapies and treatments, she said. None of that would have been possible without that test.

Next, experts at UCLA are testing the relative merits of broader whole genome sequencing to analyze all 6 billion bases that make up a persons genome. The team is exploring integration of this DNA sequencing with state-of-the-art RNA or gene expression analysis to improve the diagnostic rate.

The entire human genome was first sequenced in 1990 at a cost of $2.7 billion. Today, doctors can perform the same test at a tiny fraction of that cost, and believe that sequencing whole genomes of individuals could vastly improve disease diagnoses and medical care.

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Life Lessons: Next generation testing - WFMZ Allentown

Exclusive interview with Discovery’s First in Human sickle cell … – Monsters and

NIH research Dr. John Tisdale has effectively created a cure for sickle cell disease

When people fall ill, sometimes there is no hope. In some cases, there is an avenue of last chance to explore, this is the world of First In Human on Discovery.

Narrated by Jim Parsons, this groundbreaking three part event unfolds at the famous National Institutes of Health Building 10.

Building 10 is the largest research hospital in the country where select patients often deemed incurable and near death, with no alternatives go to be first in clinical trials for cutting edge therapies and medicines.

This is the hardest thing to do in medical research, as some treatments may wind up killing the patient.

Discoverys cameras were given unprecedented access for the first time inside this institution.

These true and gripping accounts of medical miracles are told incrementally in the three episodes. The NIH took the risk with Discovery to let them film stories and meet the doctors who have changed lives.

Their decision was based on the exemplary work of John Hoffman, the Director and EVP of Documentaries and Specials at Discovery.

Hoffman was given access worked with NIH doctors Dr. John Tisdale and Dr. Terry Fry and their respective patients, Deidra Williams and Carla and Robert Cooper among others.

This televised event takes viewers inside the crucial beginning phase of scientific research following four patients as they participate in first in human trials, the initial time a new therapy is tested in humans, revealing the character and inner strength of both the doctors and their hopeful patients.

At the recent television critics association summer press tour, we spoke with all of them about their monumental achievements and setbacks as well.

Our exclusive interview below is with Dr. John Tisdale, whose revolutionary work to cure sickle cell disease is nothing short of astounding in results.

He was accompanied by his patient, Deidra Williams, who suffered her entire life and was resigned to an early death (the average life span is 42 years). Dr. Tisdales bone marrow treatment saved her life.

Deidra recounts the pain of living with sickle cell disease

We interviewed Dr. Tisdale and Deidra together:

Monsters and Critics: How did you find Dr. Tisdale to help you, Deidra?

Deidra: I applied for the clinical trial at the NIH, and when I was accepted in thats when I met Dr. Tisdale.

M&C: How many cases do you review, Dr. Tisdale, that you see these applications? And how do you pick the people that you want to work with?

Dr. John Tisdale: We have two or three new patients that come to our clinic with sickle cell disease a week. Some of them are just interested in finding out more about their disease and may be contributing research samples for studies that we do in the lab. And some are interested in getting treatment recommendations, the one drug that we have, Hydroxyurea. And some are interested in pursuing curative therapies and are coming to see if theyre eligible for one of the clinical trials that we have open.

The way the process works is that if its the latter, we start off by determining whether its an option for them, whether their disease is severe enough. Almost every adult, it is, unfortunately. The next step is what type of curative transplant might they be eligible for.

The kind that she got was from her sister. And so, the first screen is, do you have a brother or sister thats a match that doesnt have sickle cell disease? If thats the case, then they can go into this protocol. If they dont, then we have two other experimental transplant protocols, where were testing either a half match, which almost everyone has. A parent or a child is a half match.

Or whats called Gene Therapy, where instead we take the patients own bone marrow, try to correct it, and give it back. And so, each of those protocols have a little bit different eligibility criteria that relate to whats being done to get them ready.

In her [Deidra] case, its a pretty benign prep to get the transplant. So virtually anyone with sickle cell disease would be eligible to have it done.

The other two are a little more involved, so not everyone is eligible because they have to have good kidney function, good lung function, and that sort of thing. So thats sort of how the process works.

Dr. Tisdales therapy was so successful it is being rolled out to other hospitals

M&C: Deidra, how did you feel when you got accepted into this program to be helped?

Deidra: I was excited. I was scared. And I was just doing my best not to get my hopes up high because I was living with a disease at that time that there was no cure. Sickle cell was not curable, so for me to be taking this step I had to kind of hold it in. Because you just dont want to be disappointed. But I knew that it was I just felt pulled to do it.

M&C: For people who dont know, whats living with sickle cell like?

Deidra: It is very painful. All over your body. For me, it was all over. Mainly in my joints and its just very exhausting mentally because you are always in pain. And its hard. You feel like youre trapped in your body, because what your mind says you can do and your body says and does something totally different.

Its just a very debilitating disease, and a misunderstood disease, with a lot of different misconceptions. Usually, people with sickle cell disease are very strong people. And you have to be to deal with that kind of pain from birth.

M&C: Wow. How do you feel now?

Deidra: I feel good.

M&C: When did you feel a change when you started this therapy? When did you feel a change in your overall?

Deidra: It was not like a flick of a light switch. This was an ongoing, as each day progressed, youll feel a little better and a little better and a little better. I am a little under two years And I am still starting to still feel a little bit more I dont know to say normal, but you find its a progression, the things you couldnt do, you can now do again. Maybe its walking around the block that used to trigger a crisis. Youre waiting on something to happen but it doesnt happen. Or being outside and it gets really cold, and again, youre waiting on that pain to be triggered to happen, and it doesnt happen. And youre like, Oh yeah, Im okay.

Its been a progression of clarity. And what I mean by mental clarity, because people with sickle cell, more than likely, theyre dealing with a lot of narcotics to control the pain. Once that was taken care of When youre able to lift that, just little by little. It all starts-

Dr. John Tisdale: Making more clear what its really like because you say youre in pain, you have chronic pain, lots of people have chronic pain. What happens is, the red cells that normally squeeze through the circulation, in sickle cell disease, once they let go of oxygen, the hemoglobin inside gets hard and rigid, and the red cell then becomes very rigid and cant pass through the circulation. Everything clogs up. And if it happens here, theres no blood supply to your leg.

Or if it happens in the bone, theres no blood supply to your bone, for a long time. And that damages organs. If it happens in the brain, you have a stroke. And kids with sickle cell disease have strokes and bone damage

M&C: Is it like a necropsy?

Dr. John Tisdale: Yes, necrosis. Its an intense pain.

Deidra: Yes it is.

Dr. John Tisdale: That no one else can even imagine. And it requires high doses of narcotics, in the hospital sometimes for days, sometimes for weeks. It appears out of the blue. Youre going along with life, and then the next thing youre in the hospital for two weeks on heavy doses of narcotics. And this happens over and over and over. So you cant plan life, you cant plan family things, you cant study, you cant finish school, youre in pain all the time.

You wind up on narcotics at really high doses that control the pain, but most of the time not adequately. What weve noticed actually, is it takes some time after being on pain medications for the pain wires to kind of reset in the brain.

Part of the reason why it takes some time for you to feel completely better. Even when the sickle cell is completely gone.

Deidra: Thats so right. And everything that hes saying, its just so accurate. It would get in the way of everything. The countless times where I was in school and you know, pneumonia, something happens, something just takes you out. And it got to a point to where you dont know what crisis going to be that crisis. And it just takes you out. Is it going to be my heart? Is it going to be a stroke? What is it? You pray when you go into the ER that youre going to come back out. And I did that, I had small children, and every day that was a fear. That was a fear. And now, again, just being able to think clearly, being able to think clearly and to move and not having the fear that its Oh, am I getting sick? Its just so much.

M&C: When you found out that they were doing a television show, and that you were going to be part of it, how did that process unfold to you? Youre doing your job as a doctor and youre a researcher and youre helping people with this particular blood disease, and then all of a sudden cameras are in your orbit. Tell me about that.

Dr. John Tisdale: I have to say, at first I was a little reluctant. Im sort of camera shy and dont like to be the center of attention, and certainly didnt want a bunch of film crew following me around every day. So, there was that. But we met with the people from the Discovery Channel and I was really impressed that they were in this for the right reasons, and they were really wanting to promote the kind of work that we do. I felt like I had to do it because people just dont know about sickle cell disease.

Its actually the first disease that we discovered the molecular defect, we scientistsAnd despite that, we really have nothing. And theres very little awareness of the disease. Patients with the disease are often mistreated because the one thing that we can do for them is give them narcotics. So, you show up in the emergency room and you want narcotics.

People are like, Theyre drug seeking. Its a disease thats underappreciated, misunderstood, and I felt like I had to do it.

M&C: How many years have you been researching this disease?

Dr. John Tisdale: More than 20 years at the National Institute of Health in Bethesda, Maryland the Intramural Clinical Research Program.

M&C: Deidra, talk about the frustrating thing about sickle cell, you dont look like theres anything wrong, and yet theres so much going on

Deidra: A lot of people say that [about looking good]. And thats another misconception.

Dr. John Tisdale: You look great and youre so sick.

Deidra: Its on the inside. Its not something that you can physically see.

M&C: Anyone else in your family with it?

Deidra: Yeah, I do. I have an uncle with sickle cell disease.

M&C: So he understood your suffering?

Deidra: He understood completely.

M&C: Did you have any pushback from your family that maybe thought you were putting it on, or playing up your pain?

Deidra: You have some members of the family like that. Like they think you can fix it by drinking water. Not my mother. My mothers a nurse for over 30 years. She definitely knew.

Deidra the moment she learned she was free of the disease

M&C: Im glad youre well.

Deidra: Thank you.

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Families with kids with Jordan’s Syndrome meet for study to learn more about rare gene mutation – FOX 5 DC

CHANTILLY, Va. - Families from around the world who have children with a rare gene mutation came to Washington D.C. to participate in a study that could lead to a medical breakthrough.

These families may be from all over, but there is a rare genetic link that brings them all together.

FOX 5 first brought you the story of Shelby and Greg Butler and their 12-year-old daughter Ella with special needs. She was recently diagnosed with a rare gene mutation called PPP2R5D.

Research suggests the mutation is involved in autism, Alzheimers and even cancer, but it still remains much of a mystery. Up until now, around 30 families whose child is diagnosed with it have only spoken on Facebook with each other.

That has been so overwhelming to see these kids that are so similar to her, said Shelby Butler.

Recently, the gene mutation was named Jordan's Syndrome after the daughter of Joe and Cynthia Lang from California.

Had you told Cynthia and I that a year ago we were going to be doing something like this, we would have said no way, said Joe.

They have made it their mission to gather the country's top researchers to take a deeper and wider look at Jordan's Syndrome. Lab work for the study is currently underway at the GeneDx genetics lab in Gaithersburg, Maryland.

Historically this type of research would have taken decades maybe to do, and with the rate of science being so quick right now in terms of breakthroughs and discoveries, with gene therapy and other things, we are trying to basically take advantage of that, said Megan Cho, the research program manager at GeneDx.

Families like the Butlers hope others will take advantage of getting tested.

A big takeaway from all this is it gives us hope, said Greg Butler. Gives us hope for Ella, and really, I think it gives hope for a whole lot of other people like Ella who are younger and maybe who have not gotten a diagnosis yet.

If you would like more information about how to get tested for Jordans Syndrome, ask your doctor or geneticist about taking an exome sequencing test.

It is expensive but some insurance companies may cover it. It may also be offered for free through other medical studies.

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Families with kids with Jordan's Syndrome meet for study to learn more about rare gene mutation - FOX 5 DC

Springfield Mom Works to Raise Awareness after Son Diagnosed with Rare Genetic Disorder – KRCU

Parker Atchley is your typical four-year-old in many ways. Hes shy at first but usually opens up after he gets to know you, he loves anything with wheels, baseball and splashing in water, and he sticks pretty close to his mom, but a grandma will do if moms not available.

Hes an adorable, blonde boy with dark-rimmed glasses and a stare that makes you feel like hes thoroughly assessing you but that also melts your heart.

He also is suffering from a rare diseaseor at least a disease that only a few have been diagnosed with so far.

Sitting on the floor of her living room in southeast Springfield, Parkers mom, Kathryn Atchley, said they got a diagnosis in January: KIF1A-related disorder. It was a long journey to get to that point.

"When he was around one, we realized that something was off. We weren't sure. The director of the day care he was going to actually called a meeting with us to talk about some concerns because he wasn't walking at that point. He had just started traversing around furniture," she said.

His balance was also off. Kathryn and her husband, Tyler, thought maybe it was an ear or eye problem. They took Parker to a pediatrician, an ear, nose and throat doctor and a neurologist. All tests came back normal. So they enrolled him in physical therapy. As he got older, they held onto hope that Parker would get better, but he didnt and they grew more and more frustrated.

"It started getting really worrisome when we realized that he was losing skills. Two years ago he used to be able to stand up on his own, and he can't do that anymore. He was taking nine steps at a time, and he can't do that anymore," said Kathryn.

The Atchleys took Parker to a second neurologist who recommended genetic testing. They finally got the diagnosis that Kathryn said changed everything.

"Cause then we realized it wasn't just a rare disorder, it was neurodegenerative," she said.

They no longer clung to the hope that Parker was just delayed and that physical therapy could help him catch up.

Dr. Wendy Chung, a physician with Columbia University in New York, saidKIF1A-related disorder is a genetic condition, caused by a mutation in the KIF1A gene, which was identified fairly recentlyin the last 10 years or so. It affects the brain and nervous system and, while some with the disorder are affected mildly, others, including Parker, can have severe disabilities. Those include muscle tightening, spasticity and difficulty developing. The most disheartening thing about the condition, she said, is that its degenerative.

"That is that children take steps back. They lose abilities. They lose vision," said Dr. Chung

The first piece of advice given to the Atchleys by the neurologist was to go online and find other families affected by KIF1A. Kathryn said the doctor had never heard of the disorder before.

"He was very upfront and honest and said, you know, 'I'm learning this as you guys learn it,'" she said.

She found a Facebook support group for families with children who have KIF1A-related disorder, and, at the time, there were only 20 families in the group. Its since grown some as more kids get diagnosed through whole genome testing.

Dr. Chung said shed venture to guess that the vast majority of people with KIF1A-related disorder dont even realize they have this condition.

"There are a lot of individuals out there that have symptoms who just don't know what they are. There's powerful new sequencing and genetic technology to figure that out, and, you know, I think that's what people like me are trying to do is make sure patients get access to that type of testing," said Dr. Chung.

Whole Exome Sequencing, a fairly expensive test that can be cost prohibitive, isnt covered by all insurance companies.

But Dr. Chung said other tests on children to get a diagnosis, such as MRIs and brain scans, are also expensive and dont always result in an answer. And she said having a diagnosis is valuable at many levels.

"Certainly I think for the families just having an answer about what this is and what to expect and what they can do to keep their child healthy and learning and, you know, improve their quality of life or maintain their quality of life, I think is huge if you ask any of the families. I think the other portion of this is that you don't waste your time doing things that are not necessary," she said.

According to Dr. Chung, more diagnoses ofKIF1A-related disorder will hopefully lead to more research to find a cure.

Parents of kids with KIF1A-related disorder, including Kathryn Atchley, are working to raise awareness about the condition and money for research.

"You know, in connecting with other families I think there's a lot of us parents that, 'I don't want to sit by and do nothing and just kind of let the medical community figure it out,'" said Kathryn.

Dr. Chung has taken KIF1A parents under her wing and tells them shes their Sherpatheir guide through a frightening diagnosis up what she calls a large mountain as they try to seek treatment for their children. Currently, treatment is supportive and consists of things like physical therapy, getting seizures under control and helping patients maintain their mobility.

Dr. Chung calls herself an optimistic person and is hopeful a cure will be found one day, but she doesnt know if it will be five, ten or twenty years down the road. She also calls herself a realist and said scientists are just beginning to understand KIF1A-related disorder. But she knows that scientific knowledge, especially in neuroscience is growing much more rapidly than ever before.

"So I'm confident that treatments are going to be available in the future. The question though is, you know, how quickly can we accelerate that? You the future going to be 20 years off? Can we accelerate it to be five years off? And that, I think, is still fundamentally unknown," said Dr. Chung.

After the diagnosis, Kathryn said they began adjusting their hopes and dreams for their son. She couldnt look at Parker without crying.

"And one day I was sitting at the coffee table playing with him, and he trailed tears down my face, and I realized that I was really robbing us of our present with Parker," she said.

Kathryn, who calls herself an optimist in training, doesnt want to stand by and let the disease take away the progress Parker has made. She wants to do all she can to help find a cure.

"I have to get people to care about Parker and the rest of these kids if they're going to have any hope of finding treatment or a cure," she said.

Dr. Chung said funding is needed to support research on genetic disorders like KIF1A. You can find out more and donate at Read about the Atchley family's journey with KIF1A-related disorder on Kathryn's blog.

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Springfield Mom Works to Raise Awareness after Son Diagnosed with Rare Genetic Disorder - KRCU